InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TERF2

Summary

InnateDB Protein

IDBP-39170.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TERF2

Protein Name

telomeric repeat binding factor 2

Synonyms

TRBF2; TRF2;

Species

Homo sapiens

Ensembl Protein

ENSP00000254942

InnateDB Gene

IDBG-39168 (TERF2)

Protein Structure

UniProt Annotation

Function

Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single- stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology- directed repair (HDR), which can affect telomere length. {ECO:0000269PubMed:16166375, ECO:0000269PubMed:20655466, ECO:0000269PubMed:9476899}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00625, ECO:0000269PubMed:20655466}. Chromosome, telomere {ECO:0000269PubMed:20655466}. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase.

Disease Associations

Tissue Specificity

Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 286 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	288 [view]
Protein-Protein	287 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003691	double-stranded telomeric DNA binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0042162	telomeric DNA binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0000723	telomere maintenance
GO:0001309	age-dependent telomere shortening
GO:0001701	in utero embryonic development
GO:0007004	telomere maintenance via telomerase
GO:0007049	cell cycle
GO:0010834	telomere maintenance via telomere shortening
GO:0016233	telomere capping
GO:0031627	telomeric loop formation
GO:0031848	protection from non-homologous end joining at telomere
GO:0032205	negative regulation of telomere maintenance
GO:0032206	positive regulation of telomere maintenance
GO:0032214	negative regulation of telomere maintenance via semi-conservative replication
GO:0070198	protein localization to chromosome, telomeric region
GO:0090398	cellular senescence

Cellular Component

GO:0000781	chromosome, telomeric region
GO:0000783	nuclear telomere cap complex
GO:0000784	nuclear chromosome, telomeric region
GO:0001673	male germ cell nucleus
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0030870	Mre11 complex

Protein Structure and Domains

PDB ID

InterPro

IPR001005 SANT/Myb domain
IPR009057 Homeodomain-like
IPR013867 Telomere repeat-binding factor, dimerisation domain
IPR017357 Telomeric repeat-binding factor 1/2
IPR017877 Myb-like domain

PFAM

PF00249
PF08558

PRINTS

PIRSF

PIRSF038016

SMART

SM00717

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt